James Sutcliffe
Last active: 2/20/2014

Contribution of SHANK3 mutations to autism spectrum disorder.

Moessner R, Marshall CR, Sutcliffe JS, Skaug J, Pinto D, Vincent J, Zwaigenbaum L, Fernandez B, Roberts W, Szatmari P, Scherer SW
Am J Hum Genet. 2007 81 (6): 1289-97

PMID: 17999366 · PMCID: PMC2276348 · DOI:10.1086/522590

Mutations in SHANK3, which encodes a synaptic scaffolding protein, have been described in subjects with an autism spectrum disorder (ASD). To assess the quantitative contribution of SHANK3 to the pathogenesis of autism, we determined the frequency of DNA sequence and copy-number variants in this gene in 400 ASD-affected subjects ascertained in Canada. One de novo mutation and two gene deletions were discovered, indicating a contribution of 0.75% in this cohort. One additional SHANK3 deletion was characterized in two ASD-affected siblings from another collection, which brings the total number of published mutations in unrelated ASD-affected families to seven. The combined data provide support that haploinsufficiency of SHANK3 can cause a monogenic form of autism in sufficient frequency to warrant consideration in clinical diagnostic testing.

MeSH Terms (16)

Autistic Disorder Carrier Proteins Chromosome Mapping Chromosomes, Human, Pair 14 Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 22 DNA Female Genetic Variation Humans Male Mutation Nerve Tissue Proteins Pedigree Sequence Deletion Translocation, Genetic

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